Wednesday, January 22, 2014

New Findings on Genetic Mutations Shed Light on Schizophrenia—and More

Much of the genetic risk for schizophrenia is inherited, but not all. Now, a study finds that a small number of de novo mutations—those occurring in the individual but not the parents—disrupt certain genes encoding postsynaptic proteins, which may have a part in triggering the disorder.

Furthermore, the study of 623 patients and their families found significant overlaps between these mutations and pathogenic mechanisms underlying autism and intellectual disability, wrote Michael Owen, M.D., Ph.D., director of the Institute of Psychological Medicine and Clinical Neurosciences at Britain’s Cardiff University, and colleagues. The study was published today in the journal Nature.

“How disruption of these synaptic mechanisms affects brain function to produce psychopathology cannot be answered by genetic studies alone, but our identification of de novo mutations in these gene sets provides the basis to address this,” said Owen and colleagues. Findings of overlaps among the mechanisms associated with schizophrenia, autism, and intellectual disability may add support to approaching research into mental illnesses that “places more emphasis on domains of psychopathology (for example, cognition) and their neurobiological substrates rather than current diagnostic categories,” they suggested.

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